A novel BRCA2 in frame deletion in a Tunisian woman with early onset sporadic breast cancer.
Pathol Biol (Paris)
; 63(4-5): 185-9, 2015 Sep.
Article
em En
| MEDLINE
| ID: mdl-26320393
ABSTRACT
BACKGROUND:
Breast cancer is increasing among young women in Tunisia. Germline mutations in the BRCA1/2 genes are associated with a high risk for breast cancer development. However, the true contribution of BRCA1/2 mutation in sporadic breast cancer is not well documented. Our aim is to identify the BRCA2 mutation spectrum in Tunisian young women with breast cancer.METHODS:
Screening the BRCA2 gene was performed using DHPLC, DNA sequencing and PCR-RFLP.RESULTS:
We identified, in a woman diagnosed with early onset breast cancer, and without family history, a novel in frame deletion 5456delGTAGCA in the exon 11 of the BRCA2 gene which causes a loss of two residues Ser1743-Ser1744. The absence of this deletion in the patients' parents suggests that it is a de novo variant. Furthermore, we screened 108 sporadic cases, 50 familial cases, and 60 controls for the identified del6bp using PCR-RFLP. None of them carried this deletion suggesting that this variant is not a benign polymorphism and probably rare in our population. With regards to the position of the Ser1743-1744 in the BRCT domain, sequence alignment revealed that the Ser1743 is conserved among several species, which may reflect its importance in the BRCA2 function. A modeling of the wild-type and mutated BRC5-BRC6 domain revealed that the deletion of the 2 Serine residues might affect the structure of this BRCA2 domain.CONCLUSIONS:
A novel in frame deletion 5456del6bp in BRCA2 gene was identified in an early onset woman with breast cancer and without family history.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Mama
/
Deleção de Sequência
/
Genes BRCA2
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Middle aged
País/Região como assunto:
Africa
Idioma:
En
Revista:
Pathol Biol (Paris)
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Tunísia